P382: Beta-propeller protein-associated neurodegeneration (BPAN) caused by a novel WDR45 splice variant: A case study of an undiagnosed epileptic encephalopathy syndrome

Genetics in Medicine Open 2026 Open access

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Authors: Nathaniel K. Mullin, Anna M. Paulson, Ritika Tappeta, Bharatendu Chandra
DOI: 10.1016/j.gimo.2026.103876
Cited by: 0

Abstract

No curative treatment for BPAN currently exists. Seizures are managed with brivaracetam, clobazam, and ketogenic diet. Given the presumed splice-altering mechanism of the patient’s variant, antisense oligonucleotides (ASO) are currently under investigation.

Fields of Study & Subjects

Epilepsy research and treatment Neurological diseases and metabolism Glycogen Storage Diseases and Myoclonus

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103876–103876
Publication date
1 January 2026
Language
EN